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| created at |
2024-09-23 16:23:50 UTC |
| updated at |
2024-09-23 18:22:39 UTC |
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Terms for rare diseases as defined in ORDO.
The entries were initially sourced from the ORDO version 2024-07-03 as stored in BioPortal.
Namespace: http://www.orpha.net/ORDO/
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20,514 entries
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There is 0 pattern entry.
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Riboflavin transporter deficiency 3
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Orphanet_572550 |
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Rare hepatic disease
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Orphanet_57146 |
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Variant Creutzfeldt-Jakob disease
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Orphanet_576370 |
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Iatrogenic Creutzfeldt-Jakob disease
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Orphanet_576379 |
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Glycogen storage disease due to aldolase A deficiency
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Orphanet_57 |
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Glycogen storage disease type 12
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Orphanet_57 |
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Glycogen storage disease type XII
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Orphanet_57 |
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SATB2-associated syndrome due to a pathogenic variant
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Orphanet_576283 |
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SATB2-associated syndrome due to a point mutation
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Orphanet_576283 |
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Myxoma with fibrous dysplasia
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Orphanet_57782 |
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Split cord malformation
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Orphanet_573278 |
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Split cord malformation type 2
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Orphanet_573253 |
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Split cord malformation type II
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Orphanet_573253 |
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Partial 21q monosomy
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Orphanet_574 |
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Human herpesvirus-8-negative multicentric Castleman disease
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Orphanet_570431 |
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